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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-72184112-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=72184112&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 72184112,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001321729.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "NM_015189.3",
"protein_id": "NP_056004.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 811,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272427.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015189.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "ENST00000272427.11",
"protein_id": "ENSP00000272427.7",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 811,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015189.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272427.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "ENST00000971151.1",
"protein_id": "ENSP00000641210.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 839,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971151.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "ENST00000971153.1",
"protein_id": "ENSP00000641212.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 826,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971153.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "ENST00000862930.1",
"protein_id": "ENSP00000532989.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 822,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862930.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "NM_001321729.2",
"protein_id": "NP_001308658.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 815,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321729.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "ENST00000634650.1",
"protein_id": "ENSP00000489442.1",
"transcript_support_level": 5,
"aa_start": 758,
"aa_end": null,
"aa_length": 815,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634650.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2266C>T",
"hgvs_p": "p.Arg756Trp",
"transcript": "ENST00000862937.1",
"protein_id": "ENSP00000532996.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 809,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862937.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Arg749Trp",
"transcript": "ENST00000971149.1",
"protein_id": "ENSP00000641208.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 802,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971149.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742Trp",
"transcript": "ENST00000971148.1",
"protein_id": "ENSP00000641207.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 799,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971148.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742Trp",
"transcript": "ENST00000862931.1",
"protein_id": "ENSP00000532990.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 795,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862931.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "ENST00000971150.1",
"protein_id": "ENSP00000641209.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 792,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971150.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "ENST00000862936.1",
"protein_id": "ENSP00000532995.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 788,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862936.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "NM_001321731.2",
"protein_id": "NP_001308660.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 774,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321731.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2137C>T",
"hgvs_p": "p.Arg713Trp",
"transcript": "NM_001321730.2",
"protein_id": "NP_001308659.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 770,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321730.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2137C>T",
"hgvs_p": "p.Arg713Trp",
"transcript": "NM_001321733.2",
"protein_id": "NP_001308662.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 766,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321733.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Trp",
"transcript": "ENST00000862934.1",
"protein_id": "ENSP00000532993.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 761,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862934.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Arg702Trp",
"transcript": "ENST00000971152.1",
"protein_id": "ENSP00000641211.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 759,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971152.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Trp",
"transcript": "ENST00000862932.1",
"protein_id": "ENSP00000532991.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 752,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862932.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Arg645Trp",
"transcript": "NM_001321734.2",
"protein_id": "NP_001308663.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 702,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321734.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Trp",
"transcript": "ENST00000862933.1",
"protein_id": "ENSP00000532992.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 694,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862933.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Arg628Trp",
"transcript": "ENST00000862935.1",
"protein_id": "ENSP00000532994.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 681,
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"biotype": "protein_coding",
"feature": "ENST00000862935.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
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"exon_count": 16,
"intron_rank": null,
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"aa_start": 426,
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"feature": "XM_005264224.2"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "EXOC6B",
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"transcript": "XM_017003642.2",
"protein_id": "XP_016859131.1",
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"aa_start": 426,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017003642.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
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"hgvs_c": "n.193C>T",
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"transcript": "ENST00000471335.5",
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"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000471335.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "EXOC6B",
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"biotype": "pseudogene",
"feature": "ENST00000490919.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "EXOC6B",
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"transcript": "ENST00000492257.1",
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"biotype": "pseudogene",
"feature": "ENST00000492257.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
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"exon_count": 22,
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"gene_symbol": "EXOC6B",
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"hgvs_c": "n.2321C>T",
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"transcript": "NR_135773.2",
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"biotype": "pseudogene",
"feature": "NR_135773.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
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"exon_count": 20,
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"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "n.2073C>T",
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"transcript": "NR_135774.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135774.2"
}
],
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"dbsnp": "rs751480355",
"frequency_reference_population": 0.00000574836,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000042447,
"gnomad_genomes_af": 0.0000197189,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8741121292114258,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.267,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321729.2",
"gene_symbol": "EXOC6B",
"hgnc_id": 17085,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}